Cristina Gervasini - Concepedia

Author

Cristina Gervasini

Also Known As

C Gervasini, C. Gervasini, Cristina C. Gervasini, Cristina GERVASINI, Cristina Gervasini, Gervasini, C, Gervasini, Cristina

299

Publications

4.1K

Citations

H-Index

Concepts

All Affiliations

University of Milan IRCCS Istituto Auxologico Italiano Istituti di Ricovero e Cura a Carattere Scientifico Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Ospedale San Paolo

About

Cristina Gervasini is an author at University of Milan specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	30	1.7K
2	Public Health	5	5	193
3	Health Sciences	3	3	237
4	Natural Sciences	1	1	15
5	Social Sciences	1	1	76

Cristina Gervasini

Publications

3.2K

Citations

H-Index

Page 1

	Year	Citations
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Nature Genetics Mendelian DisorderGenetic DisorderPathologyDegenerative DiseaseX-linked Cornelia	2006	476
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of <i>NIPBL</i> mutation Angelo Selicorni, Silvia Russo, Cristina Gervasini, Clinical Genetics	2007	143
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Orphanet Journal of Rare Diseases	2009	141
Influence of storage delay on quality of ‘Van’ sweet cherry M.J. Bernalte, E. Sabio, Teresa Hernández, Postharvest Biology and Technology Storage DelayPost-harvest PhysiologyFood QualityFood StorageHealth Sciences	2003	135
Phenotypes and genotypes in individuals with <i>SMC1A</i> variants Sylvia Huisman, Paul A. Mulder, E. Redeker, American Journal of Medical Genetics Part A	2017	94
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis Lina Basel‐Vanagaite, Lior Wolf, Melanie Orin, Clinical Genetics	2015	89
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene Gloria Negri, Donatella Milani, P. Colapietro, Clinical Genetics Rubinstein-taybi SyndromeBrain DevelopmentGeneticsMotor DevelopmentGenetic Epidemiology	2014	86
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire Daniela Rusconi, Gloria Negri, Patrizia Colapietro, Human Genetics Molecular NeuroscienceRubinstein–taybi SyndromeDisease MechanismGenetic DisorderMendelian Disorder	2015	86

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